List of variants in gene SMC1A reported as uncertain significance for Inborn genetic diseases

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_006306.4(SMC1A):c.1254+4G>A	rs781824288	0.00002
NM_006306.4(SMC1A):c.3692A>G (p.Asn1231Ser)	rs782012594	0.00002
NM_006306.4(SMC1A):c.2508C>A (p.His836Gln)	rs904926146	0.00001
NM_006306.4(SMC1A):c.2950G>A (p.Gly984Ser)	rs782381563	0.00001
NM_006306.4(SMC1A):c.1190A>G (p.Asn397Ser)	rs782697006
NM_006306.4(SMC1A):c.1769G>A (p.Gly590Glu)
NM_006306.4(SMC1A):c.2038C>T (p.Arg680Cys)	rs1556889524
NM_006306.4(SMC1A):c.2319G>T (p.Glu773Asp)
NM_006306.4(SMC1A):c.2506C>T (p.His836Tyr)
NM_006306.4(SMC1A):c.275G>C (p.Arg92Pro)
NM_006306.4(SMC1A):c.310G>A (p.Glu104Lys)	rs2075726145
NM_006306.4(SMC1A):c.3497A>G (p.Asn1166Ser)	rs1556885810
NM_006306.4(SMC1A):c.3638G>A (p.Ser1213Asn)	rs1569351352
NM_006306.4(SMC1A):c.376A>G (p.Ile126Val)

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